dc.contributor.author | Hoang, PH | |
dc.contributor.author | Cornish, AJ | |
dc.contributor.author | Dobbins, SE | |
dc.contributor.author | Kaiser, M | |
dc.contributor.author | Houlston, RS | |
dc.date.accessioned | 2019-09-16T14:48:05Z | |
dc.date.issued | 2019-08-06 | |
dc.identifier.citation | Blood cancer journal, 2019, 9 (8), pp. 60 - ? | |
dc.identifier.issn | 2044-5385 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/3331 | |
dc.identifier.eissn | 2044-5385 | |
dc.identifier.doi | 10.1038/s41408-019-0221-9 | |
dc.description.abstract | To gain insight into multiple myeloma (MM) tumorigenesis, we analyzed the mutational signatures in 874 whole-exome and 850 whole-genome data from the CoMMpass Study. We identified that coding and non-coding regions are differentially dominated by distinct single-nucleotide variant (SNV) mutational signatures, as well as five de novo structural rearrangement signatures. Mutational signatures reflective of different principle mutational processes-aging, defective DNA repair, and apolipoprotein B editing complex (APOBEC)/activation-induced deaminase activity-characterize MM. These mutational signatures show evidence of subgroup specificity-APOBEC-attributed signatures associated with MAF translocation t(14;16) and t(14;20) MM; potentially DNA repair deficiency with t(11;14) and t(4;14); and aging with hyperdiploidy. Mutational signatures beyond that associated with APOBEC are independent of established prognostic markers and appear to have relevance to predicting high-risk MM. | |
dc.format | Electronic | |
dc.format.extent | 60 - ? | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | NATURE PUBLISHING GROUP | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0 | |
dc.subject | Humans | |
dc.subject | Multiple Myeloma | |
dc.subject | Translocation, Genetic | |
dc.subject | Prognosis | |
dc.subject | Survival Rate | |
dc.subject | DNA Mutational Analysis | |
dc.subject | Mutation | |
dc.subject | Proto-Oncogene Proteins c-maf | |
dc.subject | Transcriptome | |
dc.subject | APOBEC Deaminases | |
dc.subject | Whole Genome Sequencing | |
dc.subject | Whole Exome Sequencing | |
dc.title | Mutational processes contributing to the development of multiple myeloma. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2019-05-08 | |
rioxxterms.versionofrecord | 10.1038/s41408-019-0221-9 | |
rioxxterms.licenseref.uri | https://creativecommons.org/licenses/by/4.0 | |
rioxxterms.licenseref.startdate | 2019-08-06 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | Blood cancer journal | |
pubs.issue | 8 | |
pubs.notes | Not known | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genomics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology/Molecular & Population Genetics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology/Myeloma Group | |
pubs.organisational-group | /ICR/Students | |
pubs.organisational-group | /ICR/Students/PhD and MPhil | |
pubs.organisational-group | /ICR/Students/PhD and MPhil/16/17 Starting Cohort | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genomics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology/Molecular & Population Genetics | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology/Myeloma Group | |
pubs.organisational-group | /ICR/Students | |
pubs.organisational-group | /ICR/Students/PhD and MPhil | |
pubs.organisational-group | /ICR/Students/PhD and MPhil/16/17 Starting Cohort | |
pubs.publication-status | Published | |
pubs.volume | 9 | |
pubs.embargo.terms | Not known | |
icr.researchteam | Cancer Genomics | |
icr.researchteam | Molecular & Population Genetics | |
icr.researchteam | Myeloma Group | |
dc.contributor.icrauthor | Hoang, Phuc | |
dc.contributor.icrauthor | Cornish, Alexander | |
dc.contributor.icrauthor | Kaiser, Martin | |
dc.contributor.icrauthor | Houlston, Richard | |